ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826259698
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2704798
ClinVar RCV Id:
RCV003589804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Ser1295Ala
CA349053533
NM_001202435.3:c.3883T>G